keyword
MENU ▼
Read by QxMD icon Read
search

VHL

keyword
https://www.readbyqxmd.com/read/29770250/the-usefulness-of-indocyanine-green-during-surgery-for-hypervascular-posterior-fossa-tumors
#1
Takahiro Shinya, Hideki Nagamine, Ken-Ichi Sugawara, Shogo Ishiuchi
Background: Cerebral hemangioblastomas are benign tumors with abundant blood flow that occur mainly in the posterior fossa. Tumor removal en bloc is important in surgical treatment because of the risk of bleeding; however, it is actually rather difficult in practice. Therefore, we propose a surgical strategy for visualizing hypervascular tumors of the posterior fossa utilizing indocyanine green (ICG). Case Description: Case 1 involved a 48-year-old male with a history of von Hippel-Lindau (VHL) disease...
2018: Surgical Neurology International
https://www.readbyqxmd.com/read/29768630/what-determines-mortality-in-malignant-pheochromocytoma-report-of-a-case-with-eighteen-year-survival-and-review-of-the-literature
#2
Matheus de Oliveira Andrade, Vinícius Santos da Cunha, Dayana Carla de Oliveira, Olívia Laquis de Moraes, Adriana Lofrano-Porto
Pheochromocytoma (PCC) is a tumor derived from adrenomedullary chromaffin cells. Prognosis of malignant PCC is generally poor due to local recurrence or metastasis. We aim to report a case of malignant PCC with 18-year survival and discuss which factors may be related to mortality and long-term survival in malignant pheochromocytoma. The patient, a 45-year-old man, reported sustained arterial hypertension with paroxysmal episodes of tachycardia, associated with head and neck burning sensation, and hand and foot tremors...
March 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29766943/brain-stem-hemangioblastomas-the-seemingly-innocuous-lesion-in-a-perilous-location
#3
Jeena Joseph, Sanjay Behari, Shruti Gupta, Kamlesh Singh Bhaisora, Anish Gandhi, Arun Srivastava, Awadhesh K Jaiswal
Introduction: Hemangioblastomas [75% sporadic, 25% with Von Hippel Lindau (VHL) disease] are highly vascular, benign lesions. The surgical nuances, management, and complication avoidance in brain-stem hemangioblastomas (BHs) have been studied. Material and Methods: Over 18 years, 27(mean age: 29 years; range 15-60 years) consecutive cases of BH underwent microsurgical excision. All patients were assessed clinico-radiologically for neurological deficits and screened for VHL disease...
May 2018: Neurology India
https://www.readbyqxmd.com/read/29766028/a-non-integrating-lentiviral-approach-overcomes-cas9-induced-immune-rejection-to-establish-an-immunocompetent-metastatic-renal-cancer-model
#4
Junhui Hu, Shiruyeh Schokrpur, Maani Archang, Kip Hermann, Allison C Sharrow, Prateek Khanna, Jesse Novak, Sabina Signoretti, Rupal S Bhatt, Beatrice S Knudsen, Hua Xu, Lily Wu
The CRISPR-based technology has revolutionized genome editing in recent years. This technique allows for gene knockout and evaluation of function in cell lines in a manner that is far easier and more accessible than anything previously available. Unfortunately, the ability to extend these studies to in vivo syngeneic murine cell line implantation is limited by an immune response against cells transduced to stably express Cas9. In this study, we demonstrate that a non-integrating lentiviral vector approach can overcome this immune rejection and allow for the growth of transduced cells in an immunocompetent host...
June 15, 2018: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29764331/psychological-impact-of-von-hippel-lindau-genetic-screening-in-patients-with-a-previous-history-of-hemangioblastoma-of-the-central-nervous-system
#5
Claire Rochette, Karine Baumstarck, Hélène Canoni-Zattara, Ahmad Esmaeel Abdullah, Dominique Figarella-Branger, Morgane Pertuit, Anne Barlier, Frédéric Castinetti, Karel Pacak, Philippe Metellus, David Taïeb
Von Hippel-Lindau (VHL) syndrome is a hereditary cancer syndrome characterized by a high risk of developing benign and malignant tumors, including central nervous system hemangioblastomas (CNS HBs). For an early diagnosis of VHL, before the occurrence of cancers (especially renal cell carcinoma), it is of huge importance to initiate VHL genetic testing in at-risk patients. The aim of the study was to assess the psychological impact of VHL genetic testing in patients previously diagnosed with a CNS HB. From 1999 until 2015, 55 patients underwent surgery for CNS HBs...
May 15, 2018: Journal of Psychosocial Oncology
https://www.readbyqxmd.com/read/29754934/comprehensive-genomic-profiling-of-metastatic-tumors-in-a-phase-2-biomarker-study-of-everolimus-in-advanced-renal-cell-carcinoma
#6
Xin Gao, Opeyemi Jegede, Connor Gray, Paul J Catalano, Jesse Novak, David J Kwiatkowski, Rana R McKay, Daniel J George, Toni K Choueiri, David F McDermott, Sabina Signoretti, Rupal S Bhatt
INTRODUCTION: Genomic events leading to activation of mechanistic target of rapamycin (mTOR) are common in renal cell carcinoma (RCC). Everolimus is an allosteric mTOR inhibitor with efficacy in metastatic RCC. We characterized the genomic profile of RCC tumors from metastatic sites and assessed whether particular alterations correlate with clinical response to everolimus. PATIENTS AND METHODS: An open-label, single-arm phase 2 biomarker study of everolimus 10 mg daily was conducted in metastatic RCC patients...
April 25, 2018: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/29753689/molecular-characterization-and-gene-expression-analysis-of-hypoxia-inducible-factor-and-its-inhibitory-factors-in-kuruma-shrimp-marsupenaeus-japonicus
#7
Yo Okamura, Tohru Mekata, Gehad Elsaid Elshopakey, Toshiaki Itami
In shrimp aquaculture, overcrowded farming causes fluctuations in dissolved oxygen concentrations. Low-oxygen conditions (hypoxia) affect shrimp growth. Hypoxia-inducible factor (HIF) is a transcriptional factor in the basic helix-loop-helix/PAS family and is activated in response to hypoxic stress. However, little is known about HIF and other inhibitors of the HIF pathway in crustaceans. In this study, we cloned MjHIF-1α, an inhibitory factor, MjFIH-1 (factor inhibiting HIF-1α), and MjVHL (Von Hippel-Lindau tumor suppressor) from kuruma shrimp (Marsupenaeus japonicus)...
May 10, 2018: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/29752349/paediatric-pancreatic-neuroendocrine-tumours-in-von-hippel-lindau-disease
#8
Samuel Matthew O'Toole, Anju Sahdev, Satya Bhattacharya, Roger Feakins, Evelien F Gevers, William Drake
Extract: Pancreatic neuroendocrine tumours (pNETs) are an established feature of von Hippel-Lindau disease (VHL), occurring in up to 17% of mutation carriers (Libutti et al. 2000; Blansfield et al. 2007; Erlic et al. 2010; Igarashi et al. 2014). The natural history of VHL-pNETs is poorly characterised with metastatic disease occurring in up to 25% of affected individuals (Erlic et al. 2010). Management of this unique pNET subgroup is complicated by the potential for multifocal and metachronous disease as well as extra-pancreatic VHL-related neoplasms (e...
May 11, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29749453/identification-of-a-vhl-gene-mutation-in-a-chinese-family-with-von-hippel%C3%A2-lindau-syndrome
#9
Zhengwen He, Lu Xia, Zhiyong Deng, Aojie Lian, Zhengmao Hu, Bin Li
Von Hippel‑Lindau (VHL) syndrome is an autosomal dominant neoplastic disorder. The VHL tumor suppressor (VHL) gene has previously been identified to represent the causative gene of VHL. Previous studies have demonstrated that >506 different mutations in VHL are associated with VHL syndrome. The aim of the present study was to determine the VHL gene mutation present in a VHL syndrome pedigree and to investigate the pathogenesis of the mutant protein. Briefly, a family suffering from VHL syndrome in a Chinese Han population was recruited, and a missense mutation (c...
May 4, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29748190/preventive-medicine-for-von-hippel-lindau-disease-associated-pancreatic-neuroendocrine-tumors
#10
Tobias Krauss, Alfonso Massimiliano Ferrara, Thera P Links, Ulrich Wellner, Irina Bancos, Andrey Kvachenyuk, Karina Villar Gómez de Las Heras, Marina Yukina, Roman Petrov, Garrett Bullivant, Laura von Duecker, Swati S Jadhav, Ursula Ploeckinger, Staffan Welin, Camilla Schalin-Jantti, Oliver Gimm, Marija Pfeifer, Joanne Ngeow, Kornelia Hasse-Lazar, Gabriela Sanso, Xiao-Ping Qi, Umit Ugurlu, Rene Eduardo Diaz, Nelson Wohllk, Mariola Peczkowska, Jens Aberle, Delmar Munir Lourenço, Maria Adelaide Pereira, Maria Candida Barisson Villares Fragoso, Ana O Hoff, Madson Queiroz Almeida, Alice H D Violante, Ana R P Quidute, Zheiwei Zhang, Monica Recasens, Luis Robles Diaz, Tada Kunavisarut, Taweesak Wannachalee, Sirinart Sirinvaravong, Eric Jonasch, Simona Grozinsky-Glasberg, Merav Fraenkel, Dmitry Beltsevich, Viacheslav I Egorov, Dirk Bausch, Matthias Schott, Nikolaus Tiling, Gianmaria Pennelli, Stefan Zschiedrich, Roland Därr, Juri Ruf, Timm Denecke, Karl-Heinrich Link, Stefania Zovato, Ernst von Dobschuetz, Svetlana Yaremchuk, Holger Amthauer, Ozer Makay, Attila Patocs, Martin K Walz, Tobias B Huber, Jochen Seufert, Per Hellman, Raymond H Kim, Ekaterina Kuchinskaya, Francesca Schiavi, Angelica Malinoc, Nicole Reisch, Barbara Jarzab, Marta Barontini, Andrzej Januszewicz, Nalini Shah, William Young, Giuseppe Opocher, Charis Eng, Hartmut P H Neumann, Birke Bausch
Pancreatic neuroendocrine tumors (PanNETs) are rare in von Hippel-Lindau disease (VHL) but cause serious morbidity and mortality. Management guidelines for VHL-PanNETs continue to be based on limited evidence, and survival data to guide surgical management are lacking. We established the European-American-Asian-VHL-PanNET-Registry to assess data for risks for metastases, survival and long-term outcomes to provide best management recommendations. Of 2,330 VHL patients, 273 had a total of 484 PanNETs. Median age at diagnosis of PanNET was 35 years (range 10-75)...
May 10, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29741264/genetic-basis-of-congenital-erythrocytosis
#11
REVIEW
C Bento
INTRODUCTION: Congenital Erythrocytosis (CE) represents a rare and heterogeneous clinical entity. It is caused by deregulated erythropoiesis where red blood cell overproduction results in elevated hemoglobin and hematocrit levels. CE may either be primary or secondary to elevated erythropoietin concentrations. The only known form of primary CE is caused by mutations in the EPOR gene. Secondary CE can be a consequence of tissue hypoxia, being caused by congenital defects such as hemoglobin variants with increased oxygen affinity, due to mutations in the α- or β-globin genes (HBB, HBA2, HBA1), or due to mutations in the BPGM gene...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29732003/single-cell-genetic-analysis-validates-cytopathological-identification-of-circulating-cancer-cells-in-patients-with-clear-cell-renal-cell-carcinoma
#12
Lucile Broncy, Basma Ben Njima, Arnaud Méjean, Christophe Béroud, Khaled Ben Romdhane, Marius Ilie, Veronique Hofman, Jane Muret, Paul Hofman, Habiba Chaabouni Bouhamed, And Patrizia Paterlini-Bréchot
Context: Circulating Rare Cells (CRC) are non-haematological cells circulating in blood. They include Circulating Cancer Cells (CCC) and cells with uncertain malignant features (CRC-UMF) according to cytomorphology. Clear cell renal cell carcinomas frequently bear a mutated Von Hippel-Lindau (VHL) gene. Aim: To match blind genetic analysis of CRC and tumor samples with CRC cytopathological diagnosis. Results: 29/30 patients harboured CRC (20 harboured CCC, 29 CRC-UMF) and 25/29 patients carried VHL mutations in their tumour...
April 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29720560/targeting-the-mevalonate-pathway-suppresses-vhl-deficient-cc-rcc-through-a-hif-dependent-mechanism
#13
Jordan M Thompson, Alejandro Alvarez, Monika K Singha, Matthew W Pavesic, Quy H Nguyen, Luke J Nelson, David A Fruman, Olga V Razorenova
Clear Cell Renal Cell Carcinoma (CC-RCC) is a devastating disease with limited therapeutic options available for advance stages. The objective of this study was to investigate HMG-CoA Reductase inhibitors, also known as statins, as potential therapeutics for CC-RCC. Importantly, treatment with statins was found to be synthetically lethal with the loss of the von Hippel-Lindau (VHL) tumor suppressor gene, which occurs in 90% of CC-RCC driving the disease. This effect has been confirmed in three different CC-RCC cell lines with three different lipophilic statins...
May 2, 2018: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/29708531/a-comprehensive-procedure-to-evaluate-the-in-vitro-performance-of-the-putative-hemangioblastoma-neovascularization-using-the-spheroid-sprouting-assay
#14
Ying Wang, DanQi Chen, MingYu Chen, KaiYuan Ji, DeXuan Ma, LiangFu Zhou
The inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene plays a crucial role in the development of hemangioblastomas (HBs) within the human central nervous system (CNS). However, both the cytological origin and the evolutionary process of HBs (including neovascularization) remain controversial, and anti-angiogenesis for VHL-HBs, based on classic HB angiogenesis, have produced disappointing results in clinical trials. One major obstacle to the successful clinical translation of anti-vascular treatment is the lack of a thorough understanding of neovascularization in this vascular tumor...
April 12, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29684361/high-frequency-of-ovarian-cyst-development-in-vhl-2b-snf5-mice
#15
Yasumichi Kuwahara, Leslie M Kennedy, Anthony N Karnezis, E Lorena Mora-Blanco, Arlin B Rogers, Christopher D Fletcher, David G Huntsman, Charles W M Roberts, W Kimryn Rathmell, Bernard E Weissman
The new paradigm of mutations in chromatin modifying genes as driver events in the development of cancers has proved challenging to resolve the complex influences over disease phenotypes. In particular, impaired activities of members of the SWI/SNF chromatin remodeling complex have appeared in an increasing variety of tumors. Mutations in SNF5, a member of this ubiquitously expressed complex, arise in almost all cases of malignant rhabdoid tumor in the absence of additional genetic alterations. Therefore, we studied how activation of additional oncogenic pathways might shift the phenotype of disease driven by SNF5 loss...
April 20, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29674707/targeted-genomic-landscape-of-metastases-compared-to-primary-tumours-in-clear-cell-metastatic-renal-cell-carcinoma
#16
Guillermo de Velasco, Stephanie A Wankowicz, Russell Madison, Siraj M Ali, Craig Norton, Audrey Duquette, Jeffrey S Ross, Dominick Bossé, Aly-Khan A Lalani, Vincent A Miller, Philip J Stephens, Lauren Young, A Ari Hakimi, Sabina Signoretti, Sumanta K Pal, Toni K Choueiri
BACKGROUND: The genomic landscape of primary clear cell renal cell carcinoma (ccRCC) has been well described. However, little is known about cohort genomic alterations (GA) landscape in ccRCC metastases, or how it compares to primary tumours in aggregate. The genomic landscape of metastases may have biological, clinical, and therapeutic implications. METHODS: We collected targeted next-generation sequencing mutation calls from two independent cohorts and described the metastases GA landscape and descriptively compared it to the GA landscape in primary tumours...
April 20, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29667626/eus-fna-in-cystic-pancreatic-lesions-where-are-we-now-and-where-are-we-headed-in-the-future
#17
REVIEW
Jose Lariño-Noia, Julio Iglesias-Garcia, Daniel de la Iglesia-Garcia, J Enrique Dominguez-Muñoz
EUS-FNA is often performed in the evaluation of Cystic Pancreatic Lesions (CPL) for a better preoperative characterization. The objective is to identify premalignant lesions as Mucinous Cystic Neoplasms, and/or a malignant transformation of them (adenocarcinoma). The role of cytological evaluation in this setting is discouraging and intracystic markers analysis, mainly CEA, lacks of a good specificity for the detection of mucinous neoplasms. New devices and approaches have emerged to overcome these problems as the cytology brush (Echobrush), the small mini-biopsy foceps, the cystoscopy and the needle Confocal LASER Endomicroscopy (nCLE), showing in some studies good rates of accuracy for distinguishing among mucinosus and non-mucinous neoplasms...
March 2018: Endoscopic Ultrasound
https://www.readbyqxmd.com/read/29666476/hif1a-inactivation-rescues-photoreceptor-degeneration-induced-by-a-chronic-hypoxia-like-stress
#18
Maya Barben, Divya Ail, Federica Storti, Katrin Klee, Christian Schori, Marijana Samardzija, Stylianos Michalakis, Martin Biel, Isabelle Meneau, Frank Blaser, Daniel Barthelmes, Christian Grimm
Reduced choroidal blood flow and tissue changes in the ageing human eye impair oxygen delivery to photoreceptors and the retinal pigment epithelium. As a consequence, mild but chronic hypoxia may develop and disturb cell metabolism, function and ultimately survival, potentially contributing to retinal pathologies such as age-related macular degeneration (AMD). Here, we show that several hypoxia-inducible genes were expressed at higher levels in the aged human retina suggesting increased activity of hypoxia-inducible transcription factors (HIFs) during the physiological ageing process...
April 17, 2018: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29662646/vhl-status-regulates-transforming-growth-factor-%C3%AE-signaling-pathways-in-renal-cell-carcinoma
#19
Pramod Mallikarjuna, Raviprakash T Sitaram, Maréne Landström, Börje Ljungberg
To evaluate the role of pVHL in the regulation of TGF-β signaling pathways in clear cell renal cell carcinoma (ccRCC) as well as in non-ccRCC; the expression of pVHL, and the TGF-β pathway components and their association with clinicopathological parameters and patient's survival were explored. Tissue samples from 143 ccRCC and 58 non-ccRCC patients were examined by immunoblot. ccRCC cell lines were utilized for mechanistic in-vitro studies. Expression levels of pVHL were significantly lower in ccRCC compared with non-ccRCC...
March 27, 2018: Oncotarget
https://www.readbyqxmd.com/read/29662268/a-pediatric-case-of-pheochromocytoma-without-apparent-hypertension-associated-with-von-hippel-lindau-disease
#20
Junko Igaki, Akira Nishi, Takeshi Sato, Tomonobu Hasegawa
Pheochromocytomas are catecholamine-secreting tumors. These tumors are rare in children, and they may be associated with hereditary syndromes such as von Hippel-Lindau (VHL) disease. Most pediatric patients with pheochromocytoma present with sustained hypertension, while 10% to 69% of adult patients are asymptomatic. Herein, we present the case of a 12-yr-old Japanese girl with pheochromocytoma due to a germline mutation in the VHL (Arg161Gln). The only complaint was loss of weight. Pyrexia, anemia, and increases in C-reactive protein (CRP) and ferritin were observed...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
keyword
keyword
25316
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"